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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:familial erythrocytosis 3
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Accession:DOID:0080338 term browser browse the term
Definition:A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: ECYT3
 primary_id: MESH:C565221
 alt_id: OMIM:609820
For additional species annotation, visit the Alliance of Genome Resources.


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familial erythrocytosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO ClinVar Annotator: match by OMIM:609820
ClinVar Annotator: match by term: Erythrocytosis, familial, 3
OMIM
ClinVar
PMID:16407130 PMID:17579185 PMID:19092153 PMID:24482100 PMID:25741868 PMID:28492532 PMID:29790589 NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      hematopoietic system disease 1642
        polycythemia 26
          primary polycythemia 22
            familial erythrocytosis 3 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                familial erythrocytosis 3 1
paths to the root